GAGE13

Chr X

G antigen 13

Also known as: GAGE-12A, GAGE-13, GAGE12A

NCBI Gene: 645051ENSG00000274274UniProt: Q4V321OMIM: 300734

I cannot provide a clinical gene summary for GAGE13 because no disease associations, protein function, or inheritance pattern information has been provided in the data. The GAGE family genes are typically associated with cancer/testis antigens rather than pediatric neurogenetic conditions, but without specific clinical information provided, I cannot make evidence-based claims about this gene's role in pediatric neurology.

OMIMResearch
MultiplemechanismLOEUF 1.84
Clinical Summary— GAGE13
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.
📋
ClinVar Variants
61 unique Pathogenic / Likely Pathogenic· 37 VUS of 102 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.84LOEUF
pLI 0.330
Z-score 0.62
OE 0.00 (0.00–1.84)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.50Z-score
OE missense 1.76 (0.83–1.95)
6 obs / 3.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.00 (0.00–1.84)
0≤0.351.4
Missense OE1.76 (0.83–1.95)
0≤0.61.4
Synonymous OE2.04
0≤1.21.6
LoF obs/exp: 0 / 0.4Missense obs/exp: 6 / 3.4Syn Z: -0.99
DN
0.6455th %ile
GOF
0.6442th %ile
LOF
0.1499th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

102 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic59
Likely Pathogenic2
VUS37
Likely Benign4
59
Pathogenic
2
Likely Pathogenic
37
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
59
0
59
Likely Pathogenic
0
0
2
0
2
VUS
0
31
6
0
37
Likely Benign
0
4
0
0
4
Benign
0
0
0
0
0
Total035670102

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

GAGE13 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Cancer testis antigen burden (CTAB): a novel biomarker of tumor-associated antigens in lung cancer
Seager RJ et al.·J Transl Med
2024
Integrated Multi-Omic Analysis Reveals Immunosuppressive Phenotype Associated with Poor Outcomes in High-Grade Serous Ovarian Cancer
Keathley R et al.·Cancers (Basel)
2023
Case Report: Sequential Chemotherapy and Immunotherapy Produce Sustained Response in Osteosarcoma With High Tumor Mutational Burden
Zheng S et al.·Front Endocrinol (Lausanne)
2021Case report
Immunologic Factors Associated with Differential Response to Neoadjuvant Chemoimmunotherapy in Triple-Negative Breast Cancer
Seager RJ et al.·J Pers Med
2024
Tumor immune microenvironment of cutaneous angiosarcoma with cancer testis antigens and the formation of tertiary lymphoid structures
Magara T et al.·Front Oncol
2023
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients